Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1035024403
rs1035024403
USH2A
0.882 0.200 1 216048648 splice acceptor variant C/T snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs104893794
rs104893794
RHO
0.925 0.080 3 129531025 missense variant C/T snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1057518949
rs1057518949
IMPDH1
1.000 0.080 7 128398560 missense variant T/G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1060499783
rs1060499783
EYS ; LOC107986608
0.925 0.080 6 63984462 stop gained G/A snv 2.5E-05 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1064793013
rs1064793013
ABCA4
1.000 0.080 1 94008300 splice region variant G/A;T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs112822256
rs112822256
EYS
1.000 0.080 6 65405253 missense variant C/T snv 1.8E-03 3.7E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1168101857
rs1168101857
PHF3 ; EYS
0.925 0.080 6 63726584 frameshift variant T/- del 1.3E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1172628170
rs1172628170
USH2A
1.000 0.080 1 215675463 missense variant T/C snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1177198729
rs1177198729
USH2A ; LOC105372918
0.882 0.200 1 216196630 stop gained C/A;G snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1178184685
rs1178184685
FAM161A
1.000 0.080 2 61840222 frameshift variant T/- del 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1182983579
rs1182983579
KLHL7
1.000 0.080 7 23125163 missense variant A/G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1207247951
rs1207247951
USH1C
0.882 0.200 11 17517465 frameshift variant C/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs121434241
rs121434241
PRPF3
0.882 0.080 1 150344216 missense variant C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs121908179
rs121908179
BBS2
0.827 0.120 16 56514487 missense variant T/G snv 4.4E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs121909076
rs121909076
TULP1
0.925 0.080 6 35503816 missense variant A/G snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs121917745
rs121917745
RPE65
0.851 0.080 1 68429835 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs121918576
rs121918576
PDE6A
0.925 0.080 5 149886354 stop gained G/C snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs121918581
rs121918581
PDE6B
0.925 0.080 4 662188 missense variant C/T snv 3.0E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1239043055
rs1239043055
GPHN ; ZFYVE26 ; RDH12
0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1291867456
rs1291867456
EYS
1.000 0.080 6 64593219 stop gained G/A;T snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1346842287
rs1346842287
EYS
1.000 0.080 6 64081882 frameshift variant T/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1352458826
rs1352458826
CNGB1
1.000 0.080 16 57916161 stop gained G/A snv 4.0E-06 2.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1359713084
rs1359713084
USH2A
1.000 0.080 1 216325522 missense variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1360937549
rs1360937549
PDE6B
1.000 0.080 4 660481 frameshift variant -/G delins 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs137853113
rs137853113
KLHL7
0.925 0.080 7 23140784 missense variant C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0